Epimerase

también conocido como: uridine diphosphate 4-epimerase.

What is an epimerase test?

Lactose is a sugar (made up of glucose and galactose) which is broken down by an enzyme called lactase. Galactose requires additional enzymes to break it down-one of which is uridine diphosphate 4- epimerase. When this enzyme is deficit/absent (a rare genetic disorder from a recessive form of inheritance), it causes a disease called galactosemia.

The Epimerase test is a blood test conducted in infants to look for a uridine diphosphate galactose 4-epimerase deficiency (GALE).

What happens during the procedure?

A routine blood draw is required in order to perform the epimerase test. The blood sample is then taken to a laboratory for testing and analysis.

Is any special preparation needed?

In most cases, no special preparation is needed for the test.
 

What are the risk factors?

Pain, bleeding, infection and damage to surrounding organs (nerve injury), and tissues are potential risks of the test.

Revisado por: Jack Wolfsdorf, MD, FAAP

Esta página fue actualizada por última vez en: enero 18, 2022 07:20 p. m.